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Mutations of p53 associated with pancreatic cancer and therapeutic implications

Voutsadakis IA

Pancreatic adenocarcinoma is a malignancy with rising incidence and grim prognosis. Despite improvements in therapeutics for treating metastatic pancreatic cancer, this disease is invariably fatal with survival time less than...
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Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea

Oh YK, Choi KE, Shin YJ, Kim ER, Kim JY, Kim MS, Cho SY, Jin DK

Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ...
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Correlation of TTF-1 immunoexpression and EGFR mutation spectrum in non–small cell lung carcinoma

Nakra T, Singh V, Nambirajan A, Malik PS, Mohan A, Jain D

Background: Thyroid transcription factor (TTF-1) is a diagnostic marker expressed in 75%–85% of primary lung adenocarcinomas (ACs). Activating mutations in the tyrosine kinase domain of the epidermal growth factor receptor...
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Comparative Performance of Line Probe Assay (Version 2) and Xpert MTB/RIF Assay for Early Diagnosis of Rifampicin-Resistant Pulmonary Tuberculosis

Yadav RN, Kumar Singh B, Sharma R, Chaubey J, Sinha S, Jorwal P

Background: The emergence of drug-resistant tuberculosis (TB), is a major menace to cast off TB worldwide. Line probe assay (LPA; GenoType MTBDRplus ver. 2) and Xpert MTB/RIF assays are two...
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Differential Sensitivity of Wild-Type and BRAF-Mutated Cells to Combined BRAF and Autophagy Inhibition

Yeom H, Hwang SH, Han BI, Lee M

BRAF inhibitors are insufficient monotherapies for BRAF-mutated cancer; therefore, we investigated which inhibitory pathway would yield the most effective therapeutic approach when targeted in combination with BRAF inhibition. The oncogenic...
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Types of 23S Ribosomal RNA Point Mutations and Therapeutic Outcomes for Helicobacter pylori

Kim SY, Park JM, Lim CH, Lee HA, Shin GY, Choe Y, Cho YK, Choi MG

Background/Aims: Point mutations in the 23S ribosomal RNA gene have been associated with Helicobacter pylori clarithromycin resistance. This study aimed to detect the prevalence of these point mutations and to...
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Genetic and clinical characteristics of pediatric patients with familial hemophagocytic lymphohistiocytosis

Ahmari AA, Alsmadi O, Sheereen A, Elamin T, Jabr A, El-Baik L, Alhissi S, Saud BA, Al-Awwami M, Fawaz IA, Ayas M, Siddiqui K, Hawwari A

Background Our study was designed to investigate the frequencies and distributions of familial hemophagocytic lymphohistiocytosis (FHL) associated genes in Saudi patients. Methods FHL associated gene screening was performed on 87 Saudi patients who...
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Will Mutations in the Spike Protein of SARS-CoV-2 Lead to the Failure of COVID-19 Vaccines?

Jia Z, Gong W

Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is the causative agent of coronavirus disease 2019 (COVID-19), which has spread worldwide since it was first identified in Wuhan, China, at the end...
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Myelodysplastic syndromes and overlap syndromes

Chang YH

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological neoplasms characterized by ineffective hematopoiesis, morphologic dysplasia, and cytopenia. MDS overlap syndromes include various disorders, such as myelodysplastic/myeloproliferative neoplasms and...
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Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation

Tian X, Zhang Y, Zhang J, Lu Y, Men X, Wang X

Research has shown mutations in the voltage-gated sodium channel gene SCN2A to be associated with developmental delays and infantile seizures in patients with early-onset epileptic encephalopathies (EOEEs). Here, we report...
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A new type of oculocutaneous albinism with a novel OCA2 mutation

Lee SY, Lee EJ, Byun JC, Jang KM, Kim SY, Hwang SK

Oculocutaneous albinism (OCA) is a group of rare genetically heterogeneous disorders, characterized by hypopigmentation of the eyes, skin, and hair, which result in ocular abnormalities and a risk of developing...
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Frequency of Benign Variants Associated with Hematologic Malignancy in the Catalogue of Somatic Mutations in Cancer

Park KJ, Park JH

Background: The presence of benign variants in mutation databases is a well-documented pitfall when interpreting clinical variants associated with hematologic malignancy. The aim of this study was to investigate the...
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Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

Lee HI, Kwon A, Suh JH, Choi HS, Song KC, Chae HW, Kim HS

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by...
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A study of pathological characteristics and BRAF V600E status in Langerhans cell histiocytosis of Vietnamese children

Phan TDA, Phung BG, Duong TT, Hoang VA, Ngo DQ, Trinh NDT, Tran TT

Background: Langerhans cell histiocytosis (LCH) is more common in children than adults and involves many organs. In children, the BRAF V600E mutation is associated with recurrent and high-risk LCH. Methods: We...
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Establishment and application of information resource of mutant mice in RIKEN BioResource Research Center

Masuya H, Usuda D, Nakata H, Yuhara N, Kurihara K, Namiki Y, Iwase S, Takada T, Tanaka N, Suzuki K, Yamagata Y, Kobayashi N, Yoshiki A, Kushida T

Online databases are crucial infrastructures to facilitate the wide effective and efficient use of mouse mutant resources in life sciences. The number and types of mouse resources have been rapidly...
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A novel KCNH2 frameshift mutation (c.46delG) associated with high risk of sudden death in a family with congenital long QT syndrome type 2

Yoo H, Medina N, von Wulffen M, Ciampi N, Paolucci A, Garro H,  Principato M, Acunzo R,  Carbajales J

Background: The congenital long QT syndrome type 2 is caused by mutations in KCNH2 gene that encodes the alpha subunit of potassium channel Kv11.1. The carriers of the pathogenic variant...
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A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)

Moon JE, Yang HY, Wee G, ParK SH, Ko CW

Purpose: Autosomal dominant hypocalcemia with hypercalciuria is a genetic disease characterized by hypoparathyroidism with hypercalciuria. We discovered a novel variant (p.Tyr825Phe[Y825F]) of the CASR gene in a neonate with congenital...
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Epidermolytic Ichthyosis: Hot Spot Mutation in KRT10 Gene Mutation

Shin JO, Roh DY, Shin K, Kim Wi, Yang MY, Lee WK, Kim HS, Kim BS, Kim MB, Ko HC

  • KMID: 2513448
  • Korean J Dermatol.
  • 2021 Feb;59(2):160-161.
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Molecular Correlates and Nuclear Features of Encapsulated Follicular-Patterned Thyroid Neoplasms

Jung CK, Bychkov A, Song DE, Kim JH, Zhu Y, Liu Z, Keelawat S, Lai CR, Hirokawa M, Kameyama K, Kakudo K

Background: Assessing nuclear features is diagnostically challenging in the aspect of thyroid pathology. The aim of this study was to determine whether pathologists could distinguish BRAF-like and RAS-like nuclear features...
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A LAMP-SNP Assay Detecting C580Y Mutation in Pfkelch13 Gene from Clinically Dried Blood Spot Samples

Khammanee T, Sawangjaroen N, Buncherd H, Tun AW, Thanapongpichat S

Artemisinin resistance (ART) has been confirmed in Greater Mekong Sub-region countries. Currently, C580Y mutation on Pfkelch13 gene is known as the molecular marker for the detection of ART. Rapid and...
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